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Glymphatic dysfunction and its association with clinical symptom severity in narcolepsy type 1: a case-control DTI-ALPS study. 1型发作性睡病患者淋巴功能障碍及其与临床症状严重程度的关系:一项病例对照DTI-ALPS研究
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-28 DOI: 10.1186/s12883-026-04669-z
Liu Xiaoxi, Zhu Shasha, An Di, Hu Yadong
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引用次数: 0
Unexpected pregnancy in a patient with AQP4-IgG + NMOSD after treatment with inebilizumab: a case report. 1例接受依胆单抗治疗的AQP4-IgG + NMOSD患者意外妊娠
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-27 DOI: 10.1186/s12883-026-04648-4
Feiyan Wan, Xia Wu, Yuanyuan Tan, Yuefei Guo, Yuge Wang, Wei Qiu, Yaqing Shu, Li Xiao
{"title":"Unexpected pregnancy in a patient with AQP4-IgG + NMOSD after treatment with inebilizumab: a case report.","authors":"Feiyan Wan, Xia Wu, Yuanyuan Tan, Yuefei Guo, Yuge Wang, Wei Qiu, Yaqing Shu, Li Xiao","doi":"10.1186/s12883-026-04648-4","DOIUrl":"https://doi.org/10.1186/s12883-026-04648-4","url":null,"abstract":"","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146060061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report. 一种新的NSD2致病变异在中国劳赫-施泰因氏综合征患者中:一个病例报告。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-27 DOI: 10.1186/s12883-026-04649-3
Hui Zhu, Tingting Feng, Wenjing Dong, Shuyao Zhu, Jinlin Liu, Jin Wang, Ping Zhou, Zemin Luo
{"title":"A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.","authors":"Hui Zhu, Tingting Feng, Wenjing Dong, Shuyao Zhu, Jinlin Liu, Jin Wang, Ping Zhou, Zemin Luo","doi":"10.1186/s12883-026-04649-3","DOIUrl":"https://doi.org/10.1186/s12883-026-04649-3","url":null,"abstract":"","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146060063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association between serum calcium trajectories and 30-day mortality among critically ill stroke patients: a cohort study using the MIMIC-IV database. 危重中风患者血清钙轨迹与30天死亡率之间的关系:一项使用MIMIC-IV数据库的队列研究
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-27 DOI: 10.1186/s12883-026-04659-1
Yucheng Li, Wentao Qi, Suqin Shi, Jingjing Sun, Qingyuan Li, Xiaochun Duan, Demao Cao, Xiaobao Gu
{"title":"Association between serum calcium trajectories and 30-day mortality among critically ill stroke patients: a cohort study using the MIMIC-IV database.","authors":"Yucheng Li, Wentao Qi, Suqin Shi, Jingjing Sun, Qingyuan Li, Xiaochun Duan, Demao Cao, Xiaobao Gu","doi":"10.1186/s12883-026-04659-1","DOIUrl":"https://doi.org/10.1186/s12883-026-04659-1","url":null,"abstract":"","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146060123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Therapeutic and biomarker potential of erythropoietin in neurodegenerative diseases: a systematic review. 促红细胞生成素在神经退行性疾病中的治疗和生物标志物潜力:系统综述。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-27 DOI: 10.1186/s12883-026-04627-9
Maryam Babazadeh, Sarvin Sanaie, Sama Rahnemayan
{"title":"Therapeutic and biomarker potential of erythropoietin in neurodegenerative diseases: a systematic review.","authors":"Maryam Babazadeh, Sarvin Sanaie, Sama Rahnemayan","doi":"10.1186/s12883-026-04627-9","DOIUrl":"https://doi.org/10.1186/s12883-026-04627-9","url":null,"abstract":"","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146060086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report. 复发性双侧臂丛神经炎后快速西马鲁肽诱导的体重减轻:1例报告。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-26 DOI: 10.1186/s12883-026-04664-4
Lukács S Lesinszki, Radmanesh Khalili, Haiyang Jiang, Shivangi Jha, Peter G Bernad
{"title":"Recurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report.","authors":"Lukács S Lesinszki, Radmanesh Khalili, Haiyang Jiang, Shivangi Jha, Peter G Bernad","doi":"10.1186/s12883-026-04664-4","DOIUrl":"https://doi.org/10.1186/s12883-026-04664-4","url":null,"abstract":"","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146050424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of high-frequency repetitive transcranial magnetic stimulation over left dorsolateral prefrontal cortex on mild cognitive impairment of Parkinson's disease: a double-blind randomized sham-controlled trial. 高频重复经颅磁刺激左背外侧前额叶皮层对帕金森病轻度认知障碍的影响:一项双盲随机假对照试验
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-24 DOI: 10.1186/s12883-026-04632-y
Lanxiang Wang, Yishi Wang, Hong Jin, Jiajing Wu, Xinmiao Ma, Sheng Zhuang, Jing Chen, Chunfeng Liu

Objective: To investigate the effects of high-frequency repetitive transcranial magnetic stimulation (rTMS) over the left dorsolateral prefrontal cortex (DLPFC) in Parkinson's disease (PD) patients with mild cognitive impairment (MCI).

Methods: This was a randomized, double-blind, controlled study. We consecutively enrolled PD patients with MCI (PD-MCI) from the Second Affiliated Hospital of Soochow University from September 2021 to November 2022. The patients were randomly assigned to the active rTMS group (n = 15) and the sham rTMS group (n = 15), and received 10HZ rTMS over left DLPFC for 7 consecutive days. A battery of neuropsychological assessments was performed on participants pre-test and post-test, including attention, executive function, memory, language, and visuospatial function. A resting electroencephalograph (EEG) was recorded, and the absolute and relative power of delta, theta, low alpha, high alpha, and beta were compared between the two groups. Follow-up assessments were performed at baseline, 1 week, 4 weeks, and 3 months after rTMS treatment.

Results: Finally, 30 patients completed the follow-up. After 1 week of treatment, compared to baseline, the active group showed significant improvement on the Montreal Cognitive Assessment (MoCA) scale (P = 0.019), Auditory Verbal Fluency Test (AVLT) immediate recall (P = 0.001), AVLT long-delayed recall (P = 0.006), AVLT recognition (P = 0.015) and Boston naming (P = 0.012), while the time of Trail Making Test B (P = 0.022) was decreased. Compared to the sham group, a significant increase in the percentage change of the global relative high alpha power was shown in the active group (P = 0.012). The data showed an increase in the percentage change of the relative high alpha power in the left frontal region (P = 0.041). Moreover, the correlation analysis revealed that the MoCA score was positively correlated with the relative high alpha power (P = 0.004). There was no significant change in the sham group.

Conclusion: High-frequency rTMS over left DLPFC contributes to cognitive improvement in PD-MCI patients and increased relative high alpha power may be associated with cognitive improvement.

Trial registration: This study has been registered at Chinese Clinical Trial Registry (identifier: ChiCTR2000039557). Registered on 31 October 2020.

目的:探讨高频重复经颅磁刺激(rTMS)对帕金森病(PD)伴轻度认知障碍(MCI)患者左背外侧前额叶皮质(DLPFC)的影响。方法:随机、双盲、对照研究。我们于2021年9月至2022年11月连续入组苏州大学第二附属医院PD合并MCI (PD-MCI)患者。将患者随机分为活跃rTMS组(n = 15)和假rTMS组(n = 15),在左侧DLPFC上连续7天接受10HZ rTMS治疗。在测试前和测试后,对参与者进行了一系列神经心理学评估,包括注意力、执行功能、记忆、语言和视觉空间功能。记录静息脑电图(EEG),比较两组间δ、θ、低α、高α、β的绝对功率和相对功率。在rTMS治疗后的基线、1周、4周和3个月进行随访评估。结果:30例患者完成随访。治疗1周后,与基线相比,积极组在蒙特利尔认知评估(MoCA)量表(P = 0.019)、听觉言语流畅性测试(AVLT)即时回忆(P = 0.001)、听觉言语流畅性测试(AVLT)长延迟回忆(P = 0.006)、AVLT识别(P = 0.015)和波士顿命名(P = 0.012)方面均有显著改善,而轨迹测试B (P = 0.022)的时间则有所减少。与假手术组相比,治疗组整体相对高α功率百分比变化显著增加(P = 0.012)。数据显示左额叶区相对高alpha功率的百分比变化增加(P = 0.041)。此外,相关分析显示,MoCA评分与较高的alpha功率呈正相关(P = 0.004)。假手术组无明显变化。结论:左侧DLPFC的高频rTMS有助于PD-MCI患者的认知改善,相对高α功率的增加可能与认知改善有关。试验注册:本研究已在中国临床试验注册中心注册(编号:ChiCTR2000039557)。于2020年10月31日注册
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引用次数: 0
Serum creatinine to cystatin C ratio as a biomarker for monitoring motor-function in children with spinal muscular atrophy treated with nusinersen: a retrospective cohort study. 血清肌酐与胱抑素C比值作为监测脊髓性肌萎缩症患儿运动功能的生物标志物:一项回顾性队列研究。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-24 DOI: 10.1186/s12883-026-04657-3
Yuan Yuan Zhang, Jie Wang, Zhen Qiong Cui, Kai Ma

Objective: To validate the clinical utility of creatinine-to-cystatin C ratio (CCR) as a biomarker for monitoring nusinersen treatment response in Chinese paediatric patients receiving nusinersen monotherapy.

Methods: In this retrospective, single-center study, 33 genetically confirmed 5q-SMA patients (≤ 18 years) treated with intrathecal nusinersen for ≥ 26 months (2020.2-2025.6) were enrolled. Motor function was serially evaluated using the Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and Hammersmith Infant Neurological Exam Part 2 (HINE-2). Serum biomarkers, such as creatinine (Cr), creatine kinase (CK), and cystatin C, were measured at multiple time points. A linear mixed-effects model (adjusted for age, body mass index, SMA type, and treatment duration) was used to assess the biomarker-function associations.

Results: Ambulant patients and those with four SMN2 copies demonstrated elevated CCR and Cr levels compared to non-ambulant patients and those with three SMN2 copies at baseline. Serum CCR levels were significantly higher than the baseline at V4-V8 (10-26 months). Cr levels were significantly higher than the baseline at V8 (26 months), whereas CK and cystatin C levels remained unchanged. In the fully adjusted linear mixed-effects models, both CCR and Cr were positively associated with HFMSE and RULM scores. However, only CCR remained significant after adjustment. Cystatin C levels were inversely correlated with the HINE-2 scores.

Conclusion: CCR is a promising biomarker in paediatric SMA patients receiving nusinersen monotherapy; however, its validity and generalizability require confirmation in larger, more diverse multicenter cohorts.

目的:验证肌酸酐与胱抑素C比值(CCR)作为监测接受诺依森单药治疗的中国儿科患者诺依森治疗反应的生物标志物的临床应用价值。方法:在这项回顾性单中心研究中,纳入33例经遗传证实的5q-SMA患者(≤18岁),经鞘内麻醉治疗≥26个月(2020.2-2025.6)。采用Hammersmith功能运动量表扩展(HFMSE)、修订上肢模块(RULM)和Hammersmith婴儿神经学检查第2部分(HINE-2)对运动功能进行连续评估。在多个时间点测量血清生物标志物,如肌酐(Cr)、肌酸激酶(CK)和胱抑素C。采用线性混合效应模型(调整年龄、体重指数、SMA类型和治疗时间)评估生物标志物-功能关联。结果:在基线时,与非门诊患者和具有3个SMN2拷贝的患者相比,门诊患者和具有4个SMN2拷贝的患者表现出更高的CCR和Cr水平。血清CCR水平明显高于V4-V8(10-26个月)的基线。Cr水平显著高于V8(26个月)时的基线水平,而CK和胱抑素C水平保持不变。在完全调整的线性混合效应模型中,CCR和Cr与HFMSE和RULM得分呈正相关。然而,调整后只有CCR仍然显著。胱抑素C水平与HINE-2评分呈负相关。结论:CCR是一种有前景的生物标志物,适用于接受nusinersen单药治疗的儿童SMA患者;然而,其有效性和普遍性需要在更大、更多样化的多中心队列中得到证实。
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引用次数: 0
Polycythemia vera and stiff-person syndrome: a case report. 真性红细胞增多症与僵硬人综合征1例报告。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-24 DOI: 10.1186/s12883-025-04524-7
Haixia Mu, Fengxia Ji, Rongfeng Du, Lingyan Hou, Yanni Li, Xiujun Yang, Chunxiao Shao, Kaijuan Hou, Yanping Wang

Background: Polycythemia vera (PV) is a myeloproliferative neoplasm, characterized by trilineage hypercellularity, which increases the risk of thrombosis. Stiff-person syndrome (SPS) is a very rare autoimmune neuronal excitability disorder, in which antibodies disrupt the balance between excitatory and inhibitory neurotransmitters, leading to stiffness and spasms of agonist and antagonist muscles.

Case presentation: This report describes the first known case of PV and SPS occurring simultaneously in a middle-aged male patient. He presented with back stiffness and painful abdominal spasms and was found to have erythrocytosis incidentally. He had high JAK2 V617F mutation burden and was positive for anti-GAD65 antibody. Progressively intensified therapy was given until his symptoms resolved.

Conclusions: This case highlights the diagnostic and therapeutic challenges of these conditions as well as the need for further exploration of potential shared molecular mechanisms between PV and SPS.

背景:真性红细胞增多症(PV)是一种骨髓增生性肿瘤,其特征为三龄高细胞性,可增加血栓形成的风险。僵硬-人综合征(SPS)是一种非常罕见的自身免疫性神经元兴奋性障碍,其中抗体破坏兴奋性和抑制性神经递质的平衡,导致激动剂和拮抗剂肌肉僵硬和痉挛。病例介绍:本报告描述了第一例已知的PV和SPS同时发生在一位中年男性患者中。他表现为背部僵硬和腹痛痉挛,并偶然发现有红细胞增多症。JAK2 V617F突变负荷高,抗gad65抗体阳性。逐步加强治疗,直到症状消失。结论:该病例强调了这些疾病的诊断和治疗挑战,以及进一步探索PV和SPS之间潜在的共享分子机制的必要性。
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引用次数: 0
Asymmetric hearing loss and the risk of stroke: evidence from a longitudinal cohort study. 不对称听力损失与中风风险:来自纵向队列研究的证据。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-24 DOI: 10.1186/s12883-026-04637-7
Yajing Wu, Kaixuan Tang, Jiaxin Fang, Shaojie Li

Background: Growing evidence suggests an association between hearing loss and cerebrovascular outcomes. However, the contribution of hearing asymmetry, which may reflect unilateral auditory vulnerability or localized cochlear and neural injury, has received limited attention. This study examined the association between asymmetric hearing loss and incident stroke in a national sample of older adults and evaluated whether this association varied by sex.

Methods: We conducted a prospective cohort study using data from Waves 13 to 15 of the US Health and Retirement Study. The analytic sample included 11,696 adults aged fifty years or older who completed bilateral pure tone audiometry. Hearing status was categorized into normal hearing, symmetrical hearing loss, and asymmetric hearing loss. Incident stroke within two years was identified from self or proxy reported physician diagnoses. Multivariable logistic regression models were used to estimate associations, adjusting for demographic characteristics, socioeconomic factors, lifestyle variables, sensory impairments, and health conditions. Sex stratified analyses and two sensitivity analyses were performed to assess robustness.

Results: Over the two-year follow up period, 182 stroke events were reported. Asymmetric hearing loss was associated with a higher risk of incident stroke compared with normal hearing in fully adjusted models (adjusted OR = 1.69, 95%CI = 1.03 ~ 2.78). Symmetrical hearing loss was not significantly associated with stroke risk after adjustment. In sex stratified models, the association between asymmetric hearing loss and stroke persisted in men, although the confidence interval was wide due to smaller subgroup sample size. No significant associations were observed among women. Sensitivity analyses that further adjusted for self-rated hearing or applied inverse probability weighting produced estimates that were consistent with the primary findings.

Conclusions: Asymmetric hearing loss was associated with incident stroke after adjustment for demographic and health related factors. These findings suggest that hearing asymmetry may reflect vascular vulnerability in older adults and may be a useful indicator in risk assessment strategies.

背景:越来越多的证据表明听力损失与脑血管预后之间存在关联。然而,听力不对称的贡献,可能反映单侧听觉易损或局部耳蜗和神经损伤,得到的关注有限。本研究在全国老年人样本中调查了不对称听力损失和偶发性中风之间的关系,并评估了这种关系是否因性别而异。方法:我们进行了一项前瞻性队列研究,使用了美国健康与退休研究第13至15期的数据。分析样本包括11696名50岁或以上的成年人,他们完成了双侧纯音听力测定。听力状况分为正常听力、对称听力损失和不对称听力损失。两年内的突发中风是通过自我或代理报告的医生诊断来确定的。多变量logistic回归模型用于估计相关性,调整人口统计学特征、社会经济因素、生活方式变量、感觉障碍和健康状况。进行性别分层分析和两次敏感性分析来评估稳健性。结果:在两年的随访期间,共报告182例卒中事件。在完全调整后的模型中,与听力正常的患者相比,不对称听力损失与卒中发生风险较高相关(调整后OR = 1.69, 95%CI = 1.03 ~ 2.78)。调整后的对称性听力损失与卒中风险无显著相关。在性别分层模型中,不对称听力损失和中风之间的关联在男性中持续存在,尽管由于亚组样本量较小,置信区间较宽。在女性中没有观察到显著的关联。敏感度分析进一步调整自评听力或应用逆概率加权产生的估计与主要发现一致。结论:在调整人口统计学和健康相关因素后,不对称听力损失与卒中事件相关。这些发现表明,听力不对称可能反映了老年人的血管易损性,可能是风险评估策略的有用指标。
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引用次数: 0
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BMC Neurology
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